ClinVar Miner

Submissions for variant NM_001776.6(ENTPD1):c.1254C>T (p.Tyr418=)

gnomAD frequency: 0.00003  dbSNP: rs759450413
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 RCV000876572 SCV001019163 likely benign Hereditary spastic paraplegia 64 2024-11-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705853 SCV005221982 likely benign not provided criteria provided, single submitter not provided

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