ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr)

gnomAD frequency: 0.00026  dbSNP: rs147119902
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556102 SCV000655659 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001653922 SCV001865298 benign not provided 2020-04-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30993914)
CeGaT Center for Human Genetics Tuebingen RCV001653922 SCV004184402 benign not provided 2023-11-01 criteria provided, single submitter clinical testing KIAA0586: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001653922 SCV005296410 benign not provided criteria provided, single submitter not provided

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