ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.1386C>T (p.Asn462=)

gnomAD frequency: 0.00008  dbSNP: rs137874590
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 RCV000864178 SCV001004945 likely benign Hereditary spastic paraplegia 54 2022-07-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847051 SCV002104604 uncertain significance Hereditary spastic paraplegia 2017-07-12 criteria provided, single submitter clinical testing

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