ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.14266+17G>C

gnomAD frequency: 0.12803  dbSNP: rs17531405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001541800 SCV001759833 benign not provided 2021-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001541800 SCV002433389 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446821 SCV004172439 benign Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001541800 SCV005285318 benign not provided criteria provided, single submitter not provided

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