ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.902C>A (p.Thr301Asn)

gnomAD frequency: 0.00026  dbSNP: rs587782968
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002055859 SCV002472236 likely benign Hypertrophic cardiomyopathy 1 2024-05-20 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000143931 SCV000188809 uncertain significance Fabry disease 2014-01-30 no assertion criteria provided clinical testing

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