ClinVar Miner

Submissions for variant NM_000356.4(TCOF1):c.889G>T (p.Ala297Ser) (rs112039991)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425058 SCV000511274 likely benign not provided 2017-01-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001085277 SCV001013082 benign Treacher Collins syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000425058 SCV001146127 benign not provided 2019-02-26 criteria provided, single submitter clinical testing

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