ClinVar Miner

Submissions for variant NM_018052.5(VAC14):c.1306-7C>T

gnomAD frequency: 0.60841  dbSNP: rs2305689
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001681015 SCV001896118 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001681015 SCV002344292 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243406 SCV002514411 benign Striatonigral degeneration, childhood-onset 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001681015 SCV005247578 benign not provided criteria provided, single submitter not provided

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