ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=)

dbSNP: rs368194577
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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 RCV001277905 SCV001683738 likely benign Autosomal recessive polycystic kidney disease 2020-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277905 SCV001464884 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-04 no assertion criteria provided clinical testing

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