ClinVar Miner

Submissions for variant NM_032620.4(GTPBP3):c.1057G>A (p.Val353Ile)

gnomAD frequency: 0.00036  dbSNP: rs77401427
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000709786 SCV000722938 benign not provided 2021-08-25 criteria provided, single submitter clinical testing
Invitae RCV000709786 SCV001016102 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709786 SCV000840109 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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