ClinVar Miner

Submissions for variant NM_001407.3(CELSR3):c.6295C>T (p.Arg2099Cys)

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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 RCV004330796 SCV004002802 uncertain significance not specified 2023-04-25 criteria provided, single submitter clinical testing The c.6295C>T (p.R2099C) alteration is located in exon 15 (coding exon 15) of the CELSR3 gene. This alteration results from a C to T substitution at nucleotide position 6295, causing the arginine (R) at amino acid position 2099 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003436017 SCV004154501 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing CELSR3: PP2, BS2

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