Submissions for variant NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=)

gnomAD frequency: 0.00444  dbSNP: rs138332626

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000372690	SCV000351875	likely benign	Age related macular degeneration 1	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	RCV000949237	SCV001095487	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000372690	SCV002808056	likely benign	Age related macular degeneration 1	2021-12-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000372690	SCV004179827	benign	Age related macular degeneration 1	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000949237	SCV005260450	likely benign	not provided		criteria provided, single submitter	not provided