ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9571A>C (p.Asn3191His)

gnomAD frequency: 0.00005  dbSNP: rs372102850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732167 SCV000860079 uncertain significance not provided 2018-03-20 criteria provided, single submitter clinical testing
Invitae RCV001470943 SCV001675043 likely benign Autosomal recessive polycystic kidney disease 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165982 SCV003868617 uncertain significance Inborn genetic diseases 2023-02-14 criteria provided, single submitter clinical testing The c.9571A>C (p.N3191H) alteration is located in exon 58 (coding exon 57) of the PKHD1 gene. This alteration results from a A to C substitution at nucleotide position 9571, causing the asparagine (N) at amino acid position 3191 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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