ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu)

gnomAD frequency: 0.00001  dbSNP: rs587784444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262634 SCV001440573 likely benign Floating-Harbor syndrome 2019-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035399 SCV004956409 uncertain significance Inborn genetic diseases 2023-12-27 criteria provided, single submitter clinical testing The c.7993C>G (p.Q2665E) alteration is located in exon 34 (coding exon 32) of the SRCAP gene. This alteration results from a C to G substitution at nucleotide position 7993, causing the glutamine (Q) at amino acid position 2665 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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