ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.773-1G>C

dbSNP: rs2142865708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Region Ostergotland RCV002251838 SCV002522544 likely pathogenic Hypertrophic cardiomyopathy 4 2021-04-13 criteria provided, single submitter clinical testing PVS1, PM2
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697196 SCV005199346 likely pathogenic not provided 2022-08-24 criteria provided, single submitter clinical testing

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