ClinVar Miner

Submissions for variant NM_177531.6(PKHD1L1):c.6507+1G>A

gnomAD frequency: 0.00692  dbSNP: rs72687022
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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 RCV000970708 SCV001118301 benign not provided 2018-04-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000970708 SCV004158352 benign not provided 2023-07-01 criteria provided, single submitter clinical testing PKHD1L1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000970708 SCV005267936 benign not provided criteria provided, single submitter not provided

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