ClinVar Miner

Submissions for variant NM_001933.5(DLST):c.1121G>A (p.Gly374Glu)

gnomAD frequency: 0.00003  dbSNP: rs1270341616
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000785999 SCV000924638 pathogenic Paragangliomas 7 2023-10-18 no assertion criteria provided literature only

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