ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2209T>A (p.Ser737Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002302592 SCV002599009 uncertain significance not specified 2022-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003098031 SCV003567105 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.2209T>A (p.S737T) alteration is located in exon 22 (coding exon 21) of the PKHD1 gene. This alteration results from a T to A substitution at nucleotide position 2209, causing the serine (S) at amino acid position 737 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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