ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.880+5C>T

gnomAD frequency: 0.00008  dbSNP: rs759601015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730103 SCV000857816 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535141 SCV003585254 uncertain significance Inborn genetic diseases 2021-11-24 criteria provided, single submitter clinical testing The c.880+5C>T intronic alteration consists of a C to T substitution 5 nucleotides after exon 12 (coding exon 11) of the PKHD1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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