ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6926C>G (p.Pro2309Arg)

gnomAD frequency: 0.00004  dbSNP: rs548018044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288554 SCV001475735 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537975 SCV003547901 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.6926C>G (p.P2309R) alteration is located in exon 33 (coding exon 33) of the NOTCH3 gene. This alteration results from a C to G substitution at nucleotide position 6926, causing the proline (P) at amino acid position 2309 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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