ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr)

gnomAD frequency: 0.00004  dbSNP: rs568910724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652580 SCV000774450 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV004723040 SCV005333437 likely benign not provided 2024-02-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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