ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.7426+8T>C

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002625483 SCV002954402 likely benign not provided 2023-02-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002625483 SCV004123979 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing HMCN1: BP4
Genome-Nilou Lab RCV003445178 SCV004172425 likely benign Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing

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