ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.462+34G>A

gnomAD frequency: 0.46041  dbSNP: rs999885
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837576 SCV000979432 benign not provided 2018-06-14 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 RCV001513682 SCV001721338 benign Hereditary spastic paraplegia 50 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001513682 SCV001775261 benign Hereditary spastic paraplegia 50 2021-07-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849129 SCV002105795 benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000837576 SCV005267645 benign not provided criteria provided, single submitter not provided

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