ClinVar Miner

Submissions for variant NM_006245.4(PPP2R5D):c.1762C>T (p.His588Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1363040405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329550 SCV001521016 uncertain significance Hogue-Janssens syndrome 1 2019-08-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GenomeConnect, ClinGen RCV002508957 SCV002818413 not provided Neurodevelopmental delay no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 09-27-2021 by Lab or 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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