Submissions for variant NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu)

gnomAD frequency: 0.01063  dbSNP: rs73317796

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000315417	SCV000456314	likely benign	Frank-Ter Haar syndrome	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000428801	SCV000511578	likely benign	not provided	2017-01-09	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000428801	SCV001105711	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000428801	SCV001873018	likely benign	not provided	2023-08-25	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics	RCV000428801	SCV005221993	likely benign	not provided		criteria provided, single submitter	not provided