ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.735G>A (p.Pro245=)

gnomAD frequency: 0.00009  dbSNP: rs138754148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909623 SCV001054439 likely benign not provided 2023-12-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001127699 SCV001287036 uncertain significance Desbuquois dysplasia 1 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.

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