ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.990+11C>T

gnomAD frequency: 0.00003  dbSNP: rs750229341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827120 SCV000968742 likely benign not provided 2018-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002538254 SCV003260966 likely benign Hereditary spastic paraplegia 3A 2024-09-23 criteria provided, single submitter clinical testing

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