ClinVar Miner

Submissions for variant NM_001370466.1(NOD2):c.2767A>C (p.Met923Leu)

gnomAD frequency: 0.00002  dbSNP: rs527892258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002551594 SCV001593840 likely benign Blau syndrome; Regional enteritis 2024-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551593 SCV003746770 uncertain significance Inborn genetic diseases 2022-05-31 criteria provided, single submitter clinical testing The c.2848A>C (p.M950L) alteration is located in exon 9 (coding exon 9) of the NOD2 gene. This alteration results from a A to C substitution at nucleotide position 2848, causing the methionine (M) at amino acid position 950 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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