ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg)

gnomAD frequency: 0.00056  dbSNP: rs150734874
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001925803 SCV002177636 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001925803 SCV004123997 benign not provided 2023-04-01 criteria provided, single submitter clinical testing HMCN1: BP4, BS1, BS2
Genome-Nilou Lab RCV003452146 SCV004180622 likely benign Age related macular degeneration 1 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968630 SCV004778214 likely benign HMCN1-related disorder 2023-06-26 criteria provided, single submitter 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).

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