ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.1937A>G (p.Glu646Gly)

dbSNP: rs369583157
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242209 SCV001415280 uncertain significance Achondrogenesis, type IA 2021-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294136 SCV003992853 uncertain significance Inborn genetic diseases 2023-05-31 criteria provided, single submitter clinical testing The c.1937A>G (p.E646G) alteration is located in exon 11 (coding exon 11) of the TRIP11 gene. This alteration results from a A to G substitution at nucleotide position 1937, causing the glutamic acid (E) at amino acid position 646 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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