ClinVar Miner

Submissions for variant NM_014317.5(PDSS1):c.467+9T>G

gnomAD frequency: 0.00026  dbSNP: rs202187965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609976 SCV000719390 likely benign not specified 2017-06-06 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 RCV000891615 SCV001035439 benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001104472 SCV001261339 uncertain significance Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 2017-04-28 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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