ClinVar Miner

Submissions for variant NM_004562.3(PRKN):c.957T>C (p.Gly319=)

gnomAD frequency: 0.01025  dbSNP: rs144340740
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466137 SCV000560144 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999502 SCV001145204 benign not specified 2023-10-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001081426 SCV001316659 benign Autosomal recessive juvenile Parkinson disease 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000466137 SCV001822321 likely benign not provided 2020-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000466137 SCV005226259 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003902698 SCV004720394 benign PRKN-related disorder 2020-01-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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