ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.984C>T (p.Ala328=)

gnomAD frequency: 0.00003  dbSNP: rs763042987
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 RCV000648381 SCV000770200 likely benign Hereditary spastic paraplegia 48 2023-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707397 SCV005228385 likely benign not provided criteria provided, single submitter not provided

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