ClinVar Miner

Submissions for variant NM_144599.5(NIPA1):c.21_23del (p.Ala16del)

dbSNP: rs769916931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861816 SCV001002220 benign Hereditary spastic paraplegia 6 2023-04-07 criteria provided, single submitter clinical testing
GeneDx RCV001530855 SCV001745759 likely benign not provided 2022-04-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849151 SCV002105419 likely benign Hereditary spastic paraplegia 2018-03-01 criteria provided, single submitter clinical testing

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