ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2703C>T (p.Asn901=)

gnomAD frequency: 0.00006  dbSNP: rs199768081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864517 SCV001005327 likely benign Autosomal recessive polycystic kidney disease 2023-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091110 SCV001246967 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000864517 SCV001463499 uncertain significance Autosomal recessive polycystic kidney disease 2018-09-28 no assertion criteria provided clinical testing

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