ClinVar Miner

Submissions for variant NM_001346754.2(PIGW):c.1321_1324del (p.Ile441fs)

dbSNP: rs2074173475
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333101 SCV001525588 likely pathogenic Hyperphosphatasia with intellectual disability syndrome 5 2019-01-04 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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