ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=)

gnomAD frequency: 0.00408  dbSNP: rs34030828
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721287 SCV000528042 likely benign not provided 2020-03-11 criteria provided, single submitter clinical testing
Invitae RCV000457238 SCV000560977 benign Hereditary spastic paraplegia 39 2024-01-24 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000457238 SCV000744933 benign Hereditary spastic paraplegia 39 2017-06-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000457238 SCV001288529 uncertain significance Hereditary spastic paraplegia 39 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848779 SCV002105523 likely benign Hereditary spastic paraplegia 2019-05-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000422260 SCV001924726 benign not specified no assertion criteria provided clinical testing

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