ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)

gnomAD frequency: 0.00093  dbSNP: rs146789444
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597573 SCV000709397 uncertain significance not provided 2018-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765892 SCV000897303 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765892 SCV001004170 likely benign Autosomal recessive polycystic kidney disease 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927945 SCV004744896 likely benign PKHD1-related disorder 2022-03-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics RCV004024858 SCV005006774 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.1307C>G (p.T436S) alteration is located in exon 16 (coding exon 15) of the PKHD1 gene. This alteration results from a C to G substitution at nucleotide position 1307, causing the threonine (T) at amino acid position 436 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000765892 SCV001463322 likely benign Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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