ClinVar Miner

Submissions for variant NM_015198.5(COBL):c.913C>A (p.Pro305Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004615697 SCV005106630 uncertain significance not specified 2024-05-15 criteria provided, single submitter clinical testing The c.913C>A (p.P305T) alteration is located in exon 6 (coding exon 6) of the COBL gene. This alteration results from a C to A substitution at nucleotide position 913, causing the proline (P) at amino acid position 305 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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