ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2030-3C>T

gnomAD frequency: 0.00002  dbSNP: rs766758560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996724 SCV001151604 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549948 SCV003563999 uncertain significance Inborn genetic diseases 2021-06-04 criteria provided, single submitter clinical testing The c.2030-3C>T intronic alteration consists of a C to T substitution 3 nucleotides before coding exon 10 in the INSR gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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