ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.1501del (p.Ser501fs)

dbSNP: rs2141557313
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729988 SCV001976704 likely pathogenic Cardiomyopathy, familial hypertrophic 27 2021-10-01 criteria provided, single submitter clinical testing PVS1, PM2

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