ClinVar Miner

Submissions for variant NM_032409.3(PINK1):c.1123+19A>G

gnomAD frequency: 0.00001  dbSNP: rs762129771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332674 SCV001525057 uncertain significance Autosomal recessive early-onset Parkinson disease 6 2020-06-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332674 SCV004457064 likely benign Autosomal recessive early-onset Parkinson disease 6 2023-02-11 criteria provided, single submitter clinical testing

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