Submissions for variant NM_000488.4(SERPINC1):c.1005G>A (p.Val335=)

gnomAD frequency: 0.00031  dbSNP: rs192187532

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000349816	SCV000351482	likely benign	Hereditary antithrombin deficiency	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000349816	SCV000756587	benign	Hereditary antithrombin deficiency	2024-01-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000349816	SCV002797863	likely benign	Hereditary antithrombin deficiency	2021-08-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004730927	SCV005338959	likely benign	SERPINC1-related disorder	2024-03-05	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).