ClinVar Miner

Submissions for variant NM_018052.5(VAC14):c.2115G>T (p.Pro705=)

dbSNP: rs2278983
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001617811 SCV001846009 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001617811 SCV002364351 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243340 SCV002514408 benign Striatonigral degeneration, childhood-onset 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001617811 SCV005247456 benign not provided criteria provided, single submitter not provided

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