ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.600+1del (rs1554210066)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599469 SCV000710504 pathogenic not provided 2018-02-02 criteria provided, single submitter clinical testing The c.600+1delG variant in the PHIP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 7. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.600+1delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.600+1delG as a pathogenic variant.
GenomeConnect, ClinGen RCV000844905 SCV000986711 not provided PHIP-Related disorders no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 02/28/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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