ClinVar Miner

Submissions for variant NM_004285.4(H6PD):c.678C>T (p.Asp226=)

gnomAD frequency: 0.00935  dbSNP: rs36094664
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 RCV000967901 SCV001115324 benign not provided 2024-09-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000967901 SCV005287950 benign not provided criteria provided, single submitter not provided

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