ClinVar Miner

Submissions for variant NM_001198950.3(MYO16):c.2868G>A (p.Met956Ile)

gnomAD frequency: 0.00026  dbSNP: rs144450367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890453 SCV001034199 benign not provided 2018-08-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028396 SCV003870036 uncertain significance not specified 2023-02-16 criteria provided, single submitter clinical testing The c.2868G>A (p.M956I) alteration is located in exon 24 (coding exon 24) of the MYO16 gene. This alteration results from a G to A substitution at nucleotide position 2868, causing the methionine (M) at amino acid position 956 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000890453 SCV005236108 benign not provided criteria provided, single submitter not provided

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