ClinVar Miner

Submissions for variant NM_017677.4(MTMR8):c.1951G>A (p.Asp651Asn)

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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 RCV004064277 SCV003872656 uncertain significance not specified 2023-02-28 criteria provided, single submitter clinical testing The c.1951G>A (p.D651N) alteration is located in exon 14 (coding exon 14) of the MTMR8 gene. This alteration results from a G to A substitution at nucleotide position 1951, causing the aspartic acid (D) at amino acid position 651 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Undiagnosed Diseases Network, NIH RCV002509903 SCV002818562 uncertain significance Kleine-Levin syndrome 2017-10-19 no assertion criteria provided clinical testing

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