ClinVar Miner

Submissions for variant NM_001346754.2(PIGW):c.1132G>C (p.Val378Leu)

gnomAD frequency: 0.00309  dbSNP: rs79448900
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960572 SCV001107568 likely benign Hyperphosphatasia with intellectual disability syndrome 5 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705972 SCV005214678 likely benign not provided criteria provided, single submitter not provided

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