ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe)

dbSNP: rs186659284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526890 SCV000655654 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001561049 SCV001783573 likely benign not provided 2021-07-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001561049 SCV005212078 likely benign not provided criteria provided, single submitter not provided

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