ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.-73A>T

dbSNP: rs1831191027
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001337908 SCV001531528 uncertain significance Fanconi anemia 2020-04-13 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this non-coding change is currently unknown. This variant has not been reported in the literature in individuals with FANCC-related conditions. This variant occurs in a non-coding region of the FANCC gene. It does not change the encoded amino acid sequence of the FANCC protein.

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