ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.393C>G (p.Ser131Arg)

gnomAD frequency: 0.00014  dbSNP: rs201121892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848406 SCV002104616 uncertain significance Hereditary spastic paraplegia 2019-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543399 SCV003278332 likely benign Hereditary spastic paraplegia 54 2022-10-05 criteria provided, single submitter clinical testing

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