ClinVar Miner

Submissions for variant NM_138295.5(PKD1L1):c.933T>C (p.Arg311=)

gnomAD frequency: 0.02894  dbSNP: rs75505495
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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 RCV000968110 SCV001115542 benign not provided 2025-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003754901 SCV004564713 benign Heterotaxy, visceral, 8, autosomal 2023-09-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000968110 SCV005268358 benign not provided criteria provided, single submitter not provided

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