ClinVar Miner

Submissions for variant NM_007175.8(ERLIN2):c.39T>C (p.Ser13=)

gnomAD frequency: 0.00001  dbSNP: rs368986092
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877740 SCV001020519 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847105 SCV002104663 uncertain significance Hereditary spastic paraplegia 2021-04-19 criteria provided, single submitter clinical testing

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