ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.9144G>A (p.Val3048=)

gnomAD frequency: 0.00038  dbSNP: rs367569387
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919996 SCV001065354 likely benign not provided 2024-12-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000919996 SCV005258263 likely benign not provided criteria provided, single submitter not provided

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