ClinVar Miner

Submissions for variant NM_001001557.4(GDF6):c.24C>G (p.Leu8=)

gnomAD frequency: 0.00016  dbSNP: rs369859861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878606 SCV001021537 likely benign Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 2023-09-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001168054 SCV001330612 uncertain significance Klippel-Feil syndrome 1, autosomal dominant 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). 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.
CeGaT Center for Human Genetics Tuebingen RCV003432863 SCV004158234 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing GDF6: BP4, BP7

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