ClinVar Miner

Submissions for variant NM_014026.6(DCPS):c.219GGATGG[3] (p.Gly77_Glu78insAspGly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994741 SCV004812798 benign Al-Raqad syndrome 2023-05-04 criteria provided, single submitter clinical testing South Asian population allele frequency is 3.731% (rs201095573,1185/30256 alleles, 32 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.5.1, this variant is classified as BENIGN. Following criteria are met: BA1

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