ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.*205G>A

gnomAD frequency: 0.05882  dbSNP: rs73305394
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000321090 SCV000469513 likely benign Hereditary spastic paraplegia 48 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001672697 SCV001884379 benign not provided 2019-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672697 SCV005228414 likely benign not provided criteria provided, single submitter not provided

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