ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.507G>A (p.Pro169=)

gnomAD frequency: 0.00001  dbSNP: rs145393127
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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 RCV001848345 SCV002106255 likely benign Hereditary spastic paraplegia 2018-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545269 SCV003496144 likely benign Charcot-Marie-Tooth disease type 2 2022-10-23 criteria provided, single submitter clinical testing

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