ClinVar Miner

Submissions for variant NM_007262.5(PARK7):c.446A>C (p.Asp149Ala)

gnomAD frequency: 0.00061  dbSNP: rs74315352
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000007482 SCV002493338 likely benign Autosomal recessive early-onset Parkinson disease 7 2023-03-19 criteria provided, single submitter clinical testing
OMIM RCV000007482 SCV000027682 pathogenic Autosomal recessive early-onset Parkinson disease 7 2013-08-02 no assertion criteria provided literature only

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