ClinVar Miner

Submissions for variant NM_001346754.2(PIGW):c.234T>C (p.Phe78=)

dbSNP: rs767714420
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002079097 SCV002428350 likely benign Hyperphosphatasia with intellectual disability syndrome 5 2022-08-31 criteria provided, single submitter clinical testing

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