ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2363C>A (p.Thr788Asn)

dbSNP: rs1390807512
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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 RCV001331502 SCV001523549 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2020-09-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001331502 SCV002284622 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-09-01 criteria provided, single submitter clinical testing

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