ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.2615A>G (p.Asn872Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003199360 SCV003893278 uncertain significance Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing The c.2615A>G (p.N872S) alteration is located in exon 23 (coding exon 23) of the PHIP gene. This alteration results from a A to G substitution at nucleotide position 2615, causing the asparagine (N) at amino acid position 872 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779694 SCV004684215 likely benign not provided 2024-02-29 criteria provided, single submitter clinical testing

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