ClinVar Miner

Submissions for variant NM_014675.5(CROCC):c.1910G>A (p.Arg637Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004191627 SCV003683821 uncertain significance not specified 2022-05-05 criteria provided, single submitter clinical testing The c.1910G>A (p.R637Q) alteration is located in exon 14 (coding exon 14) of the CROCC gene. This alteration results from a G to A substitution at nucleotide position 1910, causing the arginine (R) at amino acid position 637 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003410201 SCV004124414 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing CROCC: BP4

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