ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.2286C>T (p.Ser762=)

gnomAD frequency: 0.00001  dbSNP: rs542956735
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487456 SCV001691943 likely benign Hereditary spastic paraplegia 48 2022-07-03 criteria provided, single submitter clinical testing

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