ClinVar Miner

Submissions for variant NM_018946.4(NANS):c.684G>A (p.Val228=)

gnomAD frequency: 0.00048  dbSNP: rs374656906
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 RCV000895147 SCV001039172 benign not provided 2024-12-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000895147 SCV005910954 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing NANS: BP4, BP7, BS1

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