ClinVar Miner

Submissions for variant NM_000495.4(COL4A5):c.2959_2976del18 (p.Asp989_Gly994del) (rs104886374)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Institute,ARUP Laboratories RCV000021459 SCV000042125 pathogenic Alport syndrome 1, X-linked recessive 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.
Gharavi Laboratory,Columbia University RCV000681846 SCV000809323 likely pathogenic not provided 2018-09-16 criteria provided, single submitter research

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