Submissions for variant NM_000350.3(ABCA4):c.981C>T (p.Pro327=)

gnomAD frequency: 0.00054  dbSNP: rs61753057

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000085877	SCV001028336	likely benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001385	SCV001158587	likely benign	not specified	2018-09-13	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001073716	SCV001239275	uncertain significance	Retinal dystrophy	2017-07-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001098364	SCV001254724	uncertain significance	ABCA4-related disorder	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000085877	SCV001916007	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Retina International	RCV000085877	SCV000118020	not provided	not provided		no assertion provided	not provided
Clinical Genetics, Academic Medical Center	RCV000085877	SCV001921543	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000085877	SCV001964283	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV001098364	SCV004783056	likely benign	ABCA4-related disorder	2019-09-12	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).